N. Chassaing
发表
N. Brown,
S. Köhler,
D. Horn,
2017,
bioRxiv.
J. Shendure,
J. Rosenfeld,
B. V. van Bon,
2012,
Nature Genetics.
P. Calvas,
N. Chassaing,
A. Verloes,
2016,
European journal of medical genetics.
A. Munnich,
J. Clayton-Smith,
S. Hanein,
2013,
American journal of human genetics.
A. Smahi,
C. Bodemer,
A. Munnich,
2011,
Human mutation.
P. Calvas,
N. Chassaing,
M. Holder-Espinasse,
2013,
American journal of medical genetics. Part A.
P. Calvas,
N. Chassaing,
C. Rooryck,
2011,
European journal of medical genetics.
J. Melki,
S. Julia,
R. Touraine,
2015,
European Journal of Human Genetics.
P. Calvas,
N. Chassaing,
I. Touitou,
2007,
Journal of Genetics.
N. Chassaing,
F. Martinez,
C. Dodé,
2006,
The British journal of dermatology.
P. Calvas,
N. Chassaing,
D. Lacombe,
2020,
Clinical Oral Investigations.
P. Stankiewicz,
P. Szafranski,
J. Beckmann,
2013,
Human mutation.
Gustavo,
Ulrike,
Schady,
2013
.
K. Grzeschik,
K. Prescott,
R. Happle,
2009,
Human Mutation.
P. Calvas,
N. Chassaing,
C. Rooryck,
2011,
European journal of medical genetics.
A. Munnich,
J. Casanova,
A. Abhyankar,
2014,
Human mutation.
N. Chassaing,
D. Chauveau,
J. Belliere,
2019,
Clinical kidney journal.
N. Chassaing,
M. Avril,
O. Cabaret,
2016,
Dermatology.
L. Bouneau,
S. Julia,
P. Calvas,
2015
.
P. Calvas,
N. Chassaing,
H. Dollfus,
2018,
Human Genetics.
P. Calvas,
N. Chassaing,
F. Malecaze,
2009,
Clinical genetics.
A. Munnich,
S. Julia,
P. Calvas,
2019,
European Journal of Human Genetics.
F. Alkuraya,
J. Baptista,
P. Calvas,
2022,
Journal of Medical Genetics.
M. McCulloch,
R. Terkeltaub,
N. Chassaing,
2012,
American journal of human genetics.
P. Calvas,
N. Chassaing,
M. Le Bert,
2005,
Journal of Medical Genetics.
S. Julia,
N. Chassaing,
G. Jondeau,
2020,
Molecular genetics & genomic medicine.
R. Porcher,
N. Chassaing,
P. Jouk,
2010,
European journal of medical genetics.
P. Calvas,
N. Chassaing,
H. Dollfus,
2018,
Clinical genetics.
R. Pfundt,
C. Creuzot-Garcher,
P. Calvas,
2016,
European Journal of Human Genetics.
N. Chassaing,
J. Schanstra,
M. Pontoglio,
2017,
Journal of the American Society of Nephrology : JASN.
N. Chassaing,
L. Schurgers,
F. Rutsch,
2010,
American journal of medical genetics. Part A.
P. Calvas,
N. Chassaing,
P. Berbis,
2006,
The Journal of investigative dermatology.
N. Chassaing,
J. Mazereeuw-Hautier,
N. Jonca,
2017,
Acta dermato-venereologica.
R. Touraine,
N. Chassaing,
P. Jouk,
2020,
Human mutation.
P. Calvas,
N. Chassaing,
M. Cortón,
2018,
Ophthalmic genetics.
N. Philip,
N. Chassaing,
F. Clauss,
2017,
Clinical genetics.
P. Calvas,
N. Chassaing,
J. Plaisancié,
2016,
Journal of Pediatric Genetics.
P. Calvas,
N. Chassaing,
K. Dahan,
2011,
Kidney international.
P. Calvas,
N. Chassaing,
D. Chauveau,
2017,
Journal of Nephrology.
R. Deberardinis,
H. Firth,
J. Tolmie,
2012,
Human mutation.
N. Chassaing,
T. Lavabre‐Bertrand,
G. Rolland,
2021,
European Journal of Human Genetics.
R. Touraine,
A. Toutain,
N. Chassaing,
2021,
Clinical genetics.
N. Chassaing,
L. Faivre,
Y. Duffourd,
2019,
European journal of medical genetics.
N. Chassaing,
D. Chauveau,
S. Faguer,
2008,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
P. Calvas,
N. Chassaing,
N. Ragge,
2019,
Human Genetics.
N. Chassaing,
T. Bardakjian,
L. Reis,
2022,
European Journal of Human Genetics.
F. Rivier,
O. Patat,
P. Calvas,
2016,
American journal of medical genetics. Part A.
A. Toutain,
P. Calvas,
N. Chassaing,
2014,
Clinical genetics.
O. Patat,
N. Chassaing,
C. V. van Ravenswaaij-Arts,
2013,
Molecular Syndromology.
A. Toutain,
P. Calvas,
N. Chassaing,
2007,
American journal of medical genetics. Part A.
L. Bouneau,
O. Patat,
P. Calvas,
2017,
European journal of medical genetics.
P. Calvas,
N. Chassaing,
A. Hovnanian,
2005
.
P. Calvas,
N. Chassaing,
A. Hovnanian,
2004,
The Journal of investigative dermatology.
R. Holt,
P. Calvas,
N. Chassaing,
2018,
Human Genetics.
A. O’Donnell-Luria,
N. Chassaing,
C. Schaaf,
2021,
Journal of Medical Genetics.
S. Terry,
N. Chassaing,
T. Hefferon,
2011,
Journal of the American Academy of Dermatology.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
L. Bouneau,
P. Calvas,
N. Chassaing,
2022,
Clinical genetics.
N. Chassaing,
J. Plaisancié,
F. Metge,
2023,
American journal of medical genetics. Part A.
P. Calvas,
N. Chassaing,
A. Verloes,
2020,
European Journal of Human Genetics.
N. Katsanis,
P. Calvas,
N. Chassaing,
2016,
Genome research.
N. Chassaing,
V. Gaston,
E. Bieth,
2016,
American journal of human genetics.
N. Chassaing,
Alexia Vinel,
S. Laurencin-Dalicieux,
2021,
Healthcare.
A. Smahi,
C. Bodemer,
P. Calvas,
2010,
Clinical genetics.
Allen D. Delaney,
H. Baier,
P. Kwok,
2010,
PloS one.
P. Calvas,
N. Chassaing,
H. Dollfus,
2018,
Human Genetics.
N. Chassaing,
B. Gilbert-Dussardier,
C. Rooryck,
2010,
Human molecular genetics.
S. Julia,
P. Calvas,
N. Chassaing,
2004,
American journal of medical genetics. Part A.
S. Julia,
P. Calvas,
N. Chassaing,
2002,
Journal of medical genetics.
A. Toutain,
N. Chassaing,
W. Carré,
2016,
Human mutation.
R. Holt,
P. Calvas,
N. Chassaing,
2019,
Human Genetics.
P. Calvas,
N. Chassaing,
M. Cossée,
2006,
Human mutation.
Stephen W. Wilson,
R. Holt,
E. van Binsbergen,
2019,
American journal of human genetics.
J. Rosenfeld,
E. Roeder,
F. Xia,
2016,
Human mutation.
P. Calvas,
N. Chassaing,
D. Chitayat,
2013,
American journal of human genetics.
Soma Das,
R. Scott,
E. Ortibus,
2011,
Journal of Medical Genetics.
N. Chassaing,
A. Paepe,
P. Coucke,
2010,
Journal of Human Genetics.
P. Gressens,
A. Toutain,
N. Chassaing,
2012,
European Journal of Human Genetics.
N. Chassaing,
C. Bellanné-Chantelot,
F. Broux,
2019,
European Journal of Human Genetics.
N. Chassaing,
C. Bellanné-Chantelot,
F. Broux,
2019,
European Journal of Human Genetics.
P. Calvas,
N. Chassaing,
J. Schanstra,
2014,
Kidney international.
N. Chassaing,
D. Chauveau,
S. Decramer,
2009,
NDT plus.
Justyna A. Karolak,
H. Mefford,
W. Chung,
2019,
American journal of human genetics.
Yusuke Nakamura,
Toshihiro Tanaka,
A. Munnich,
2015,
American journal of human genetics.
Luciana Rodrigues da Silva,
R. Holt,
P. Calvas,
2018,
Human Genetics.
A. Smahi,
A. Munnich,
P. Guigue,
2010,
The British journal of dermatology.
Dian Donnai,
Graeme C.M. Black,
Nicolas Chassaing,
2007,
Nature Genetics.
J. Melki,
N. Philip,
Salima El-Chehadeh,
2019,
European Journal of Human Genetics.
P. Calvas,
N. Chassaing,
C. Gilissen,
2020,
Journal of Human Genetics.
P. Calvas,
N. Chassaing,
D. Bax,
2018,
Human Genetics.
W. Newman,
P. Calvas,
N. Chassaing,
2018,
Human Genetics.
P. Calvas,
N. Chassaing,
C. Rieubland,
2010,
Molecular vision.
S. Julia,
A. Afenjar,
A. Toutain,
2016,
Clinical genetics.
P. Calvas,
N. Chassaing,
M. Cortón,
2023,
International journal of molecular sciences.
C. Béroud,
N. Chassaing,
V. Drouin‐Garraud,
2010,
Human mutation.
N. Chassaing,
D. Bonneau,
L. Martín,
2009,
The British journal of dermatology.
N. Chassaing,
D. Bonneau,
O. Le Saux,
2008,
Archives of dermatology.
N. Chassaing,
M. Le Bert,
L. Martín,
2007,
Journal of the European Academy of Dermatology and Venereology : JEADV.
N. Chassaing,
J. Bazex,
L. Lamant,
2005,
Journal of the European Academy of Dermatology and Venereology : JEADV.
B. V. van Bon,
A. Hoischen,
K. Devriendt,
2014,
European Journal of Human Genetics.
N. Chassaing,
P. Michenet,
L. Martín,
2007,
The British journal of dermatology.
F. Alkuraya,
N. Chassaing,
W. Dobyns,
2021,
American journal of medical genetics. Part A.
N. Chassaing,
A. Vigouroux,
2009,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
P. Calvas,
N. Chassaing,
A. Vigouroux,
2009,
Genetic testing and molecular biomarkers.
P. Calvas,
N. Chassaing,
F. Malecaze,
2008,
Clinical genetics.
N. Chassaing,
S. Albrecht,
C. Jardel,
2022,
Molecular Syndromology.
E. M. DeGennaro,
Kiely N. James,
Michael E. Coulter,
2020,
Genetics in Medicine.
P. Calvas,
N. Chassaing,
F. Tiziano,
2009,
Human mutation.
C. Depienne,
A. Afenjar,
A. Jezela-Stanek,
2020,
Epilepsia.
P. Calvas,
N. Chassaing,
D. Lacombe,
2020,
Clinical Oral Investigations.
C. Mercer,
E. Jabs,
N. Katsanis,
2012,
Journal of Medical Genetics.
A. Munnich,
S. Julia,
P. Calvas,
2019,
European Journal of Human Genetics.
R. Holt,
J. Clayton-Smith,
P. Calvas,
2022,
Ophthalmic genetics.
P. Calvas,
N. Chassaing,
A. Verloes,
2020,
European Journal of Human Genetics.
T.,
C. Kostic,
P. Calvas,
2018,
Acta Ophthalmologica.
P. Calvas,
N. Chassaing,
A. Kariminejad,
2013,
Clinical genetics.
N. Chassaing,
J. Wilczyński,
D. Nowakowska,
2017,
Birth defects research.
P. Fergelot,
A. Mégarbané,
N. Chassaing,
2016,
Journal of Human Genetics.
N. Chassaing,
J. Schanstra,
L. Rostaing,
2016,
Transplantation.
N. Chassaing,
D. Chauveau,
S. Decramer,
2012,
European Journal of Medical Genetics.
K. Doheny,
E. Jabs,
A. F. Scott,
2014,
JAMA ophthalmology.
R. Holt,
N. Chassaing,
D. Bax,
2023,
Journal of Medical Genetics.
P. Calvas,
N. Chassaing,
D. Bax,
2023,
European Journal of Human Genetics.
Peter N. Robinson,
N. Brown,
S. Köhler,
2017,
Genome Medicine.
P. Calvas,
N. Chassaing,
D. Lacombe,
2003,
American journal of medical genetics. Part A.
S. Julia,
A. Afenjar,
A. Toutain,
2016,
Clinical genetics.
P. Calvas,
N. Chassaing,
A. Sévely,
2019,
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
F. Rivier,
O. Patat,
P. Calvas,
2016,
American journal of medical genetics. Part A.
P. Calvas,
N. Chassaing,
François Malecaze,
2008,
Clinical genetics.
A. Smahi,
C. Bodemer,
A. Munnich,
2011,
Human mutation.
P. Stankiewicz,
P. Szafranski,
J. Beckmann,
2013,
Human mutation.
C. Depienne,
O. Guillin,
A. Afenjar,
2023,
European journal of human genetics : EJHG.
N. Chassaing,
B. Gilbert-Dussardier,
D. Lacombe,
2005,
American journal of medical genetics. Part A.
A. Smahi,
C. Bodemer,
P. Calvas,
2010,
Clinical genetics.